Clinical and Genetic Factors Associated With Drug Resistance of Epilepsy

This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

NCT04166305 Epilepsy, Drug Resistant

MeSH:Epilepsy Drug Resistant Epilepsy

HPO:Focal sensory seizure Seizure

1 Interventions

Name: Genetic study for SCN1A c.3184 A/G and CCL2-2518G>A polymorphism:

Time Perspective: Retrospective

Case-Control

There are 2 SNPs

SNPs

1 rs1024611

Drug Resistant Epilepsy: Clinical and Genetic Study This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

2 rs2298771

Drug Resistant Epilepsy: Clinical and Genetic Study This study is to identify the clinical criteria of drug resistant epilepsy and to explore whether SCN1A c.3184 A/G (rs2298771) and ccl2(rs1024611) polymorphisms could serve as genetic based biomarkers to predict drug resistance among epileptic patient.

• Genotyping of SCN1A c.3184 A/G(rs2298771) polymorphism.

HPO Nodes

HPO:

HP:0011157: Focal sensory seizure

Genes 9

PRRT2 EPM2A MICAL1 RELN RELN LGI1 NHLRC1 CNTN2 KCNA1

Protein Mutations 0

SNP 0

HP:0001250: Seizure

Genes 2637

SMC1A WHCR CTC1 FA2H NAA10 SYNJ1 NUP133 FAM126A DNAJC6 UBE3A IL17RC ST3GAL5 TDP1 PTS TRNS2 CASR VLDLR ARX RRM2B OTUD6B FAR1 MC2R ALX4 TACR3 PAH EXT2 PIGC HNF1B ATM ABCC8 ZC3H14 CLN6 SETD5 PSMD12 TUBB3 FGF17 OCRL HESX1 KCNJ11 CCDC141 PACS1 SOX10 SMARCC2 SETBP1 PEX10 MYO5A GCDH ASXL1 HADHA CTNNB1 USP9X MAFB CNKSR2 KIF7 B3GALNT2 RPIA ATP6 CDH23 ERAP1 MAPT CLTCL1 FLI1 CYB5R3 NDST1 NDUFV1 CSF1R GRIN2A IL17RA DNASE1L3 SMS SUFU FLVCR2 TSPAN7 TMEM70 GMPPB CA8 DEAF1 ZSWIM6 NFIX SCN1A PRMT7 CCDC88A PIGG NDST1 FKRP VPS13B GABRD ALG9 KCNH1 CTRC RAP1B EIF2AK3 POMK GLI2 TRNS1 GJC2 GNB1 CEP164 KPTN SDHA LMNB2 NDUFS3 ACTG1 KIAA0556 SMG9 PROK2 GNE ND3 LARP7 PC CACNA1A ACOX1 STAMBP CPS1 COX6B1 SRPX2 SGPL1 KCNH2 DNM1 CPLX1 SOX10 SZT2 RPGRIP1L FMN2 MLH1 CLP1 POLG RPL10 ERLIN2 FTSJ1 GAL TGFBR3 KCNMA1 FCGR2B KDM6B ACSF3 TRNS1 SOX4 PTEN PROK2 GRIN2B MAPRE2 PIGW SSR4 GRIN1 SLC2A1 DHDDS SDHC ZBTB18 VPS13A HERC1 ANKH SLC9A6 PLA2G6 HIBCH NAGA SSR4 ZIC2 KCNT2 NIN ERCC2 ACVRL1 NUBPL THOC2 MFF ANKRD11 GNAS PIGS GAMT ESCO2 USP9X EFHC1 GLRX5 LRPPRC STXBP1 TUBGCP6 GCK ADSL MECP2 EZH2 UPF3B MRPS22 PAK3 HLA-DPA1 WARS2 PAX2 GATA6 SNORD115-1 ARL13B AP4E1 GCH1 PRRT2 SCN3A SLC12A5 NNT ECHS1 STT3A GABRD CHRNA2 ADAT3 FAR1 BCKDK LAMC3 PEX16 CLN8 KCNQ2 JAK2 ASPA SCN9A TSFM PROKR2 LCA5 AP2M1 CDK10 RERE PROP1 STXBP1 GATA4 STXBP1 CEP290 NDUFS2 HRAS NECAP1 NTRK2 GLI3 ASXL1 COL4A2 HCN1 WDR73 HMBS AGTR2 TBX1 SLC6A1 NBAS TXNRD2 IFT140 FGFR1 ND5 PEX3 AKT3 KCNQ2 PRPS1 NRAS EXOSC3 SDHA EIF3F AGRN ATAD3A UBA5 RPGRIP1L ADAT3 MAGEL2 DMD SUCLA2 NUS1 PEX12 KMT2A PMM2 FOXA2 EXT2 MEGF10 FLNA DIAPH1 ERLIN2 MTOR HCN1 DEAF1 BCOR NSUN2 NSDHL HDAC8 CNTN2 MMUT TRAPPC12 COG4 SPINK5 PEX26 PIGC PIGA KCNJ6 SLC17A5 GLI3 ARHGAP31 MAPK1 CIT UQCC2 NSUN2 CACNB4 PHKG2 POMT2 SPR METTL23 PPP1R15B PEX1 MYRF EOGT PHGDH PGAP1 TRNT SLC39A8 ALG3 NADK2 HLCS TANGO2 TRNL1 ANKRD11 ZFP57 ATM AKT1 ARMC9 THPO NDUFA10 CYP27A1 TRNC GABRA2 KCNA1 PRDM8 RHOBTB2 SCN9A TRAPPC11 NDUFS1 TRAF3IP2 OSGEP KCNJ11 USP7 SCN9A PRODH LETM1 MLYCD SMC3 ADGRG1 POLG TBCE VAMP1 TBX1 GLI2 TUBB4A PCDH19 TRIO PPP3CA GLRA1 PDE4D PSEN1 NDUFAF3 MECP2 FKTN AIMP2 CAMKMT RBM10 KIFBP SHROOM4 SLC46A1 PSAP LHX1 TXN2 APP GK CTNNA2 KIF11 TACO1 KIF4A RNASEH2B NDUFA9 TSEN15 SLC6A19 TMEM67 GSS GABRB3 SLC25A22 GRIN2B PIGO RPGRIP1 CHD2 SCN2A EPG5 PLPBP COL18A1 IQCB1 MFSD2A SLC9A7 ASCL1 IKBKG ZNHIT3 KCNJ5 COX20 GATA6 ALG13 HUWE1 TRAPPC11 ARSA ARF1 KIF11 SLC6A1 POU3F4 DHCR24 ARX OCLN UBE2A SCN9A NDE1 PTCH1 ACY1 DENND5A GNAS RD3 DEPDC5 CLPB PSAP FOXRED1 PHGDH SLC35A1 SH2B1 HS6ST2 ARCN1 FGFR1 TSEN54 TBCD TBC1D24 PDE10A ATP1A2 ARNT2 TRNF POMGNT1 TBC1D24 HTRA2 SLC19A2 AKT3 RELN SEC23B SPRY4 SETD5 RPL10 KIF7 POMGNT1 TUBB2B SIK1 GP9 NRXN1 MECP2 GFM1 PPP1R15B ASXL3 HLA-B TBCE TUBA8 UNC80 WDR4 COL4A1 PDHX BRAF ADAR GAS1 TBC1D24 MBTPS2 GTF2E2 NMNAT1 CASK HECW2 TRAPPC11 GDNF COL3A1 CNNM2 AP4S1 BMPR1A STX11 HEPACAM DHCR7 GALC ADA2 CCDC88C SLC25A19 ST3GAL5 GLUD1 SQSTM1 ADGRV1 CILK1 IL23R PMS1 CPT2 SLC25A20 KMT5B KCNA2 MTFMT PLK4 SLC1A2 RPS6KA3 COL4A1 FLNA ADNP MSH6 NDUFA13 NF1 PGAP3 PGAP1 NSD2 BRAF ADAMTSL2 GTF2H5 SON PIK3CA ATP6V1A KCNE1 KCNJ11 TRNP EIF2B3 SDHAF1 ARHGAP31 RBM8A AIMP1 BMP4 ROGDI CTLA4 NIPA1 SCN4B EPCAM NDN KCNQ3 UBA5 ABCD1 LIPT2 HESX1 TBL1XR1 PEX14 FA2H TRIP13 PEX13 MPLKIP MBD5 GLI3 CDKL5 AKT1 CLN6 RARS2 FLRT3 GCK RASGRP1 ATP1A1 LMNB2 PDHA1 ALG1 CENPE TCF4 ND5 NCAPD3 TNFRSF11A ARX LRP2 PCNT OTUD6B GJA1 KCNT1 PCDH19 SLC22A5 PEX1 GLS EPM2A SON UPF3B PTPN22 SLC17A5 SYNGAP1 KCNA1 TREX1 FGFR1 OPA1 D2HGDH KMT2D ARX KAT6A CPOX KCNN3 CNPY3 MFSD8 NLGN3 EFHC1 PPP2R5D CRBN SCO1 FGFR3 CASK PCYT1A VPS11 RAB39B CPA6 DNAJC6 PTCHD1 USP27X TXN2 PGAP2 WDR26 GUF1 LYST STT3B UPB1 TRMT10A TRIO LAMA2 ATP6AP2 TANGO2 NDE1 IL17RD DHX30 AHSG LYST KIF5A RNASEH2A PEX6 PIK3CA WWOX RPL10 GATAD2B GABRG2 UGT1A1 RAB39B SDHAF1 GPC3 SCN1B KPTN PEX16 FOXG1 CACNA1C GUF1 CPT1A NANS ATP6 OSGEP ZNF711 CTNND2 DSTYK TDP2 PARS2 CTU2 OTX2 FARSB POMT2 BCL10 MED12 RTTN ARL3 NONO MED12 SCN2A CASK SRPX2 GRIN1 ARX ACADM NUP107 BPTF GRIN2B MLH3 PIGA PEX5 OAT TMEM231 STX1B ABCA7 FMR1 AHI1 CHN1 CLPB GBA ABAT TPK1 CPLX1 SCN1A ALG2 ARL6IP6 RERE ARMC9 NOS1AP WWOX MTHFR CYFIP2 LAGE3 SPTBN4 ERCC6 SPATA7 DOLK SLC20A2 AKT2 GPC4 POMT2 COG8 HTT ND5 TRIP12 KCNMA1 CTSA SLC2A1 PHOX2B FGF12 ARX STXBP1 ACTB BCR TRAF7 NOTCH3 AKAP9 SPINK1 SDHD GOSR2 ABCC8 GABRD FAM111A RAB27A TBX19 CTBP1 NOTCH1 DPM1 PRODH COX3 RNU12 SIX3 PEX12 CTH TRNS1 ATIC MKS1 KCNJ6 IRAK1 HCFC1 NRAS ATP2A2 RAC1 TCTN1 HSD17B10 EFHC1 PEX19 VCP CIC SARDH NAGA TCF4 MCCC1 SCN1B CCM2 UNC93B1 ALDH7A1 CYTB POMK MED17 SMARCA4 TWIST1 SMARCB1 AKT1 RECQL4 CSTB CLCN4 FLNA MVK FAM149B1 MEF2C PSEN2 GNAO1 EBP MED12 TMEM67 GRM1 FGF8 CFH ARID2 IL1RAPL1 ATP5F1D TDGF1 ADRA2B PARS2 CACNA1A PHF6 ZNF142 DIS3L2 CAMTA1 CLCF1 PGK1 SCN5A IQSEC2 PGAP3 TRNQ NDP LONP1 SIN3A VPS53 PRRT2 FGFR2 TRIM8 PAK1 CC2D2A CHRNA7 COX8A AP3B2 VLDLR PQBP1 PTF1A KDM6A GNB1 ATP6AP2 NDUFS7 RAB18 ASAH1 AMACR SLC25A20 ITGB6 ALMS1 NRAS PEX26 LAMB1 TSC1 NDUFS2 NTRK2 GRM1 AARS1 PRRT2 PRRT2 HDAC8 COQ4 STT3B IVD SMC1A ARID1A FBXO31 MOGS KCNA1 RET RNF125 SLC25A42 COX7B SUCLA2 NF2 EFHC1 ANKRD11 GLA CDC42 FGFR2 NDUFA2 MAP1B IQSEC2 ATAD1 KCNE2 WDR73 PRKDC STXBP1 PPOX GCK ATP6V1B2 ND1 HSD17B4 GRIA3 NAXD ERLIN2 KCNJ10 GLA NACC1 DLG3 ERCC5 NDUFB8 TRDN ND6 GBA WDR73 HIVEP2 UBTF EXT2 STAG1 COMT GJA1 GBA GPSM2 MTFMT GRIK2 NAA10 PROKR2 NFKB2 SELENOI TMTC3 GLUL TGFBR2 POMT1 L1CAM MYO1H CDC42 YEATS2 POLG PIGY CARS2 LNPK KCNB1 TRNS1 FADD RAB3GAP2 ATP6V1B2 DDOST TBK1 HNRNPU COX1 ANGPTL6 CPA6 AHI1 DHPS RXYLT1 SEPSECS CKAP2L MEF2C FUCA1 KIAA1109 HS6ST1 SMARCA2 MOCS2 SIX3 ND4 TREX1 ZNF423 MYH14 MED25 XPA SLC2A1 FKRP GLB1 TRNQ CNKSR2 HMBS PTPN22 RAI1 CDK13 MGP C1QA PEX19 CBS SLC25A1 CYP27A1 RPS6KA3 USF3 COX1 COX15 XPC NAT8L ZBTB18 ARV1 ENG BUB3 PLEKHG2 DOCK7 L1CAM ADGRG1 ATP1A2 PET100 TLR3 PLK4 TRNF CCR1 EMC1 MPDU1 TMEM237 ERCC2 PSPH SMARCC2 TRNV SLC18A3 GDF6 COX14 JRK CRIPT AARS1 CEP57 TREX1 ARX PMPCB SETD2 GTPBP3 KLHL15 BCL11B NPRL3 INPP5K TRNN TGFB1 CYP27B1 HTT NDUFV1 ZNF592 BCS1L SMARCB1 CTLA4 ACADSB ALDH18A1 GPC1 CPT1A SLC25A22 WDR45 PPT1 HLA-B RAB39B JAM3 SDHD NEDD4L ARID1A PQBP1 SLC2A1 NUS1 GDI1 COQ6 CDH15 HEXA KDM6A PUM1 CDKL5 NGLY1 SLC39A8 IRF2BPL TRAK1 PIGT PSPH L1CAM ALG1 ARHGEF6 TMEM106B CNOT1 BCKDHB PRMT7 PEX26 CHRNB2 GLRB ATIC TK2 CLN8 SIN3A CPT2 SLC12A3 PRDX1 WFS1 CISD2 ST3GAL3 COA8 OSTM1 BRAT1 NRAS MRAP SPTAN1 SYN1 BCAP31 CLDN16 LSS ND5 TRNT1 NADK2 MTOR TWNK TRNF TGIF1 WDR4 KCNMA1 ALDH7A1 PRNP XPR1 MMADHC CPLANE1 PCDH12 TRDN HEPACAM FBXL4 RDH12 GMPPB ALG11 CLIC2 SETBP1 CLIC2 ATXN10 FKTN AUH SOX2 NEUROD2 TRNW ALG3 NDUFAF2 GPHN SLC6A8 CDK5 OFD1 GMPPB ARX XPNPEP3 ARNT2 HIRA DPM2 GNE TUBB2A ARSA EXOSC9 CCBE1 SNX14 MYH3 GLE1 SLC35A2 ADA2 COL18A1 RAD21 GDI1 TREM2 DPF2 KMT2D GPT2 HTRA1 SCN10A BUB1B TRAPPC9 GABRA1 KRAS KCNQ3 PIGO ERCC3 ALDH18A1 ANTXR1 RAB11B GTPBP2 PLA2G6 EIF2B2 TBC1D20 AHDC1 ASNS FAS MED23 SCN1B PDGFB WDR45 PCCB HLA-DPB1 INSR SLC45A1 AUTS2 POLE TGDS GRIN2A PTRH2 MECP2 TMEM138 SLC35A2 TMLHE CYP26C1 SIK3 MECP2 KCNJ11 SCN3A ST3GAL3 PEX2 WDR81 PIK3CA CLCN2 GCDH COQ2 GABBR2 HNRNPU TRNK RAI1 TRNL1 TMEM106B KIAA0753 TIMMDC1 CRLF1 COG2 NDUFS4 ZNHIT3 CACNA1H PAH HAX1 GNAQ KCNQ2 PIGP GRIN2D ECE1 LINS1 CYTB KCNQ1 DEGS1 TK2 NDUFAF2 TRNP IQSEC2 ATP6V1A SLC45A1 LBR CEP120 ACTA2 ATRX ANK1 NEXMIF FKRP ETHE1 TREM2 PRRT2 TLK2 GDF2 PMS2 GBA PUS3 PIGV EIF2B1 TSC2 ATR MORC2 BCORL1 LETM1 NDUFS4 ETHE1 CHD1 SNAP29 LARS2 PIGL RRM2B TSEN54 EFTUD2 GABRG2 CDON P4HTM CEP120 ARG1 AGA BCOR FAM111A SCN8A PDE6D TMEM70 PHKA2 GNAQ CDH11 NDUFA2 CLIP1 ALDH5A1 ARSA ZEB2 NAGLU MTHFS CNTN2 TP53 COL13A1 MARCHF6 EARS2 SIK1 GUCY1A1 DNM1L USP45 GLS TRNK PWAR1 ECM1 YEATS2 CDH23 IKBKG ALDOB ANK3 TUBA8 ADK POGZ ARX PACS1 PRICKLE1 KCNC1 ELP1 FRG1 IL12B POU1F1 TPRKB GPR161 PEX1 GNB5 PEX5 SCN8A MEN1 SETBP1 KDM5C TUSC3 NDUFS8 CPLX1 IARS1 ACTG1 POMGNT2 BOLA3 SPP1 OPHN1 SORL1 PTEN AIFM1 OTX2 MSH2 GPHN NEXMIF PDP1 KCNQ1 CCM2 ANK2 ALG11 SYT2 SCN1A POGZ RAB39B CHD2 B3GALNT2 FOXP1 GRIN2D SCN3A DBT NF2 BMP2 NIPBL TSEN54 MECP2 NIN RUBCN CLN8 ATP1A3 SMS UBA1 GNAQ SDHD CREBBP FBLN1 ATP6V1E1 IFIH1 CLTC PEX19 PEX1 SPATA5 MYO5A SRD5A3 NDUFS7 MID2 EPG5 SPG11 SARS1 ATP6AP2 PYCR2 MYORG CHD1 FMN2 ERCC4 PYCR2 CXORF56 SOX11 PEX1 PTH MLX HLCS SLC12A6 CENPJ NUP133 GMPPB TWNK POLG KCNT1 KCNB1 NIPA1 HPD IVD CHD7 NDUFAF3 PEX11B NEU1 DOCK6 RBPJ CLEC7A PSAP CNTNAP2 TRNL1 PNPO IDH2 LINGO1 CALM1 RANBP2 CRBN ALG6 DAG1 TRAPPC6B EBP C11ORF95 GM2A PIEZO2 PDCD10 CHKB GBA DNMT3A CCND2 PPP2CA GBA ZBTB20 AIP ALKBH8 TACO1 AGA RPS20 DPH1 GNAO1 DYNC1I2 SCN2A CUL4B EGF ACVR1 NDUFB11 ANK3 STX1B RELN CTSA TRNK DCPS MTRR C9ORF72 TBX1 NR2F1 SLC19A3 PEX11B SCN2A ND1 DOCK6 MAPK8IP3 POMT2 SETD2 SLC6A5 COL1A2 KMT2E MEN1 CLCNKB NFASC MTHFD1 COX2 FASTKD2 MCPH1 AASS ITPA HADH FGFR3 GPAA1 FKTN TRAPPC9 SASS6 DIP2B RPE65 PDX1 BCKDHA ACADM PAK3 SARS1 FBP1 C12ORF4 GLYCTK NDUFA11 MTM1 CHD8 SH2B1 SNRPN TBC1D23 AIFM1 SYP COG8 ND1 CKAP2L CASQ2 SNIP1 PLA2G6 FCSK CC2D1A CBS ATP5F1A UBE2A LMX1B NDUFB8 MAF FIG4 COX7B NSD1 ACADS GABRB2 CEP41 ADAM22 NTRK2 TBR1 IPW MYO5A INS MEFV TRNK FOLR1 FRMPD4 INPP5E PIGN CCBE1 TMEM216 HADHA ACSL4 ALDH4A1 WASHC4 ACSF3 TTR DDX3X PIK3R2 SMC3 KANSL1 NEK1 FGFR1 PEX7 TRNS2 CYP2R1 SOX5 CYB5A PCK1 POLG2 SEC24C TSC1 ATP8A2 CRB2 ALG13 MPDU1 C1R AKT2 B3GLCT NF1 POMT1 MPC1 ADAMTS3 PIGN ERCC6 TYROBP TRRAP KCNH1 HCN1 AVPR2 CACNB4 SDHA SDHB SDHB POMC ZC4H2 SUOX ATP13A2 ACAT1 POMGNT1 PHACTR1 ACVRL1 GABRB1 VARS1 VPS11 NDUFS6 KRIT1 NDUFA12 TBCK B4GAT1 MED25 NNT NDUFV2 TIMM50 PSAP MTRR CRADD PEX14 LRP2 ARX SLC16A1 SZT2 MOGS CDKL5 GNAS VPS13A GBA TREM2 MMACHC SLC1A4 NPC1 DISP1 PEX5 CNPY3 SMARCE1 MAN1B1 SLC25A13 APP WDR11 SNORD118 DNASE1 LARGE1 PPP2R1A YWHAG PTEN AVPR2 FGFR3 NDUFAF6 CAV3 COQ9 LAMA2 TREX1 PIGP PSMD12 PEX10 SNAP25 ALAD HADHB HGSNAT SALL4 TELO2 PEX26 NONO DCC RAB27A CAMTA1 KIAA0586 CASK ARV1 B3GALNT2 AFG3L2 RREB1 TWNK SMARCA2 ASAH1 SLC19A3 PLCB1 PSAT1 RPGRIP1L PURA FOXRED1 GCK PEX13 FKTN ROBO3 PGM3 SLC2A1 CARS2 SYNJ1 GYS2 SLC33A1 KLLN PEX2 POMT2 TBC1D24 SAMD12 STXBP1 GABRG2 DDX3X TUBGCP4 TOE1 DLL1 SERAC1 TECR LMAN2L AQP2 TICAM1 GP1BB PSEN1 KCNH1 CYFIP2 FARS2 PCDH19 COG5 FRMPD4 TWNK POLA1 ND6 GJC2 USP18 HYLS1 SP110 PRTN3 PIGL HESX1 GAD1 ALG2 GRN STUB1 ENG AIPL1 CHAT ZNF81 RSRC1 GABBR2 TRNI DPAGT1 TRNF CHRNA4 MKRN3-AS1 ACTL6B SLC19A3 LAS1L CTSD DNAJC19 TRAK1 SMPD1 RAB18 CLTC PRDM16 RELN ATXN10 FLI1 L2HGDH STAT3 ATP6V0A2 GABRA1 PEX6 ALDH5A1 QARS1 LRAT CNTNAP2 SLC35A3 FOXG1 TSEN54 SKI CACNA1E OSTM1 PIK3R2 IL1RAPL1 GPT2 CC2D2A PPP2R1A ADD3 TBC1D20 GLI3 CRLF1 CD96 KDM6A KCNJ10 PRKAG2 ATRX SCO2 PTEN PEX2 PSAP ND4 PEX6 RELA MTR UFC1 PPM1B SCN8A DHDDS SCN8A SIK1 ARFGEF2 AQP2 POMC DYRK1A CLCN2 SCN10A PIGG SLC12A1 SLC3A1 EPRS1 SC5D ATP7A RERE SUCLG1 TYROBP NDUFA1 COL3A1 PODXL TDP2 EIF2S3 TRAPPC9 PDX1 SDHA HSPD1 PEX14 TP53 ATRX FUCA1 PIGW INSR AMPD2 ELMO2 PGAP2 ABCC8 NSD2 MECP2 TUBA1A GMPPB GABRB2 HADH SMARCB1 RAP1A PSAT1 WDR11 KLF13 SCN2A ERCC8 MED12 QDPR PEX5 GYS1 PRRT2 CRADD STARD7 GRIK2 DARS2 MVK TRMT1 ANOS1 KRAS ATP5F1A FTL GNS FAM111A AP4S1 ARX NDUFB11 TOE1 RORB GRIA3 POLG2 GLI2 CPT2 SHH STAR TRIT1 FOXH1 ALDOB ATAD1 TBC1D24 PROKR2 UBAC2 SGSH SCN1A RFT1 SNTA1 TSC2 TMEM67 EDN3 NDUFS8 MBD5 ST3GAL5 NAGS GABRB3 PCSK1 AP1S2 PRSS1 KDM5B SLC2A1 CCDC115 NGLY1 ATRX NEU1 TRNQ NTNG1 POMT1 HTT TOMM40 SLC6A8 ERMARD LMBRD1 BCOR KCNQ3 TARS1 ATN1 DLD TMEM231 PIGV SLC13A5 PNPO PROP1 APP PEX6 CHRNA7 PDSS2 DPYD HMGCS2 B9D1 KRAS TRAF3 POLG GRIN2A PDGFRB EGF NACC1 NALCN TBX19 USP9X PIGN DOCK7 ACY1 CLN5 OTX2 PPP3CA ARG1 TCIRG1 NHLRC2 DCX GMPPA CPLANE1 AP4E1 KCNJ1 DLL4 SEMA3A DCC NUP214 PAFAH1B1 GYS2 TRNW SPTAN1 EMG1 RNU4ATAC SLC12A6 FA2H AP4B1 BCS1L FTO ARFGEF2 ARID1B APC2 KMT2A SAMD9 SCN2A PACS2 TRNH ATP6V1A KMT2C ATP1A3 ERCC1 PEX3 GPAA1 RNU4ATAC CTSF TBX1 DCX ATP6 TFAP2A AP3B2 HCCS PRKCD ALPL MSX2 FGF12 PIGT CASQ2 PEX13 TCTN3 SNRPN FLVCR1 ARHGEF9 CAMK2A SCARB2 TBC1D24 MCCC2 ISCA1 TBC1D24 KAT6A NFIX B9D2 MAN1B1 PTCH1 HESX1 HIBCH IL17F NPAP1 FRRS1L TUBB2B FAN1 SLC13A5 NFIA FAS ATP6V1A ABCC9 PROC HADH VPS13B SIK1 TBK1 CAMK2A ATP6V0A2 PDSS2 COLGALT1 GTPBP3 MICAL1 FADD RYR2 CERT1 LIPT1 WWOX NTRK2 PEX16 MANBA SOX3 GRIN2A TNIK SCN1A SLC25A1 BDNF TRPV3 RPS6KA3 CRKL KCNE1 GABBR2 TMEM94 SURF1 NDUFAF6 BTD SCN8A LHX4 POLG ARSA KCNA2 PTCH1 PLAGL1 PDCD10 UBE3A WDR62 MMADHC DPM2 TBP NECAP1 CHMP2B ARID1B NEK9 TSC1 SMC1A MACF1 MEFV PEX5 COQ8A GABRA1 ATP7A PLA2G6 TLR3 CACNA1B PEX13 ISG15 COQ2 YWHAE XK CYP27B1 CEP104 CPT2 LAS1L PEX6 NECTIN1 XPR1 CCDC141 IER3IP1 ACOX1 POMGNT1 LGI4 AVPR2 HYMAI PREPL ASH1L FXYD2 MAPK10 FEZF1 SOX10 YWHAG APP IL12A FASLG ERCC6 PWRN1 KCNJ11 KCNQ5 TSC1 PHOX2B BUB1 L2HGDH LARGE1 FMR1 BSCL2 PLAA ENG UCP2 CNTNAP1 COG7 POLR3A SLC2A1 UFM1 PSMB8 KCNA2 CILK1 KCNQ3 STS CPS1 IL12A-AS1 WFS1 PPA2 NELFA SURF1 ARHGEF9 SUFU TRIP13 MKS1 EIF2B4 AMER1 COX10 HDAC8 GNAS PEX2 POLA1 SRPX2 ATP6V0A2 SCN1B BRAF DHFR KISS1R SETBP1 KMT2A NSD1 NEUROD2 SLC5A7 ACO2 RANBP2 ZFYVE26 NDE1 DNMT3A RFT1 NEDD4L PTEN LMAN2L SEMA4A MOCS1 UFD1 RARS1 EPM2A RNASEH2A RNASET2 MC1R FGFRL1 FGFR2 FGFR1 SERPINI1 CSNK2A1 HMGCL DHCR24 KIF1A WDR26 CACNA1D FGFR3 NDUFB11 JMJD1C CDKL5 MEIS2 TP53 TPP1 IFNG FAT4 PLCB1 DGUOK MBTPS2 MAN1B1 SAMD12 FCGR2A TBCK KRAS SNORD116-1 GABRA5 TBCE KCNQ2 FUT8 ATN1 ZDHHC9 SLC25A22 RMND1 NSD1 RTTN NUS1 NDUFAF5 SCN1A MMAA CHD2 CTNNB1 COX2 PIGL ALDH3A2 RUBCN IBA57 FARS2 PEX19 PIGQ PROKR2 GLRA1 HYMAI TRNH ATN1 FGF8 FBP1 ASXL2 TP53RK SLC25A4 ADGRV1 SMARCB1 ASPA TMTC3 DPYS OCRL TULP1 SLC52A2 ADNP TECPR2 GABRG2 CUX2 TRAPPC12 METTL23 TCF4 NKX6-2 STAT4 HACE1 GRN SPAST SPATA5 CSPP1 FKRP HCFC1 NDUFAF4 TRNL1 POMT1 BTD VARS2 AMACR AUH SYP ND2 RPS6KA3 RAC1 IMPDH1 DPM1 HCN1 IRF3 TUBB3 SLC1A3 PRPS1 STRADA RNR1 ALDH3A2 LAMA2 DLD TSEN2 MGP POMK ANKLE2 GBA RNF113A GUCY2D HMGCL TSC2 TBCE KDM5C ZNF41 UNC80 DNM1 CLP1 KIF15 PCCA FRRS1L OPHN1 MAST1 FGFR3 NDP OTC KCNJ13 SLC6A19 ABCC8 ABCC8 SUMF1 PEX3 PEX14 KIF2A WARS2 PTS IREB2 GLUD1 NSUN2 ASL ALPL ERCC5 UBTF ECM1 RSRC1 WAC TECPR2 PPP2R5D PSAP CUL4B COX10 TRMT10A ABCC8 FRA16E JRK SMARCE1 PDHA1 PDGFB ABCA5 ARX NDUFS1 GCSH CACNA1D KAT6B MBOAT7 TBCE ALG9 PIK3R2 HERC2 HNF1A MID2 ATP6AP1 MANBA STXBP1 TMEM216 HNF4A ERCC3 PHF6 CEP41 PRDM8 STRADA SHROOM4 TRAPPC2L SCN2A CCNQ KRAS IDS ND6 NOTCH3 EZR GLDC INPP5E PET100 EP300 FKTN PEX3 COX15 MC2R NLGN4X KIF1A CUX2 VDR TRNW NODAL MBTPS2 PHOX2B MICOS13 PRF1 NAGA SC5D PIGM PMM2 PNKP PAH HACE1 KLRC4 NOS3 TMEM237 LGI1 GM2A KCNK4 CLPP PLAGL1 PEX10 MTOR KCNAB2 NPRL2 ERMARD PEX16 TAT ARID1B B4GAT1 PIGY NAXE FH INS SHANK3 ARF1 SLC1A2 PERP CC2D2A CEP290 KATNB1 GATA3 ADPRS AP4M1 TAF1 MTO1 TRPM6 DNM1L KCNQ2 SCN11A GABRD STX16 OFD1 CAD CPT2 GCM2 PIBF1 HRAS HERC2 EEF1A2 TCTN2 GNAO1 MPL TWNK ACTB DNM1 MMACHC CRPPA IFIH1 HNRNPH2 DUSP6 RAI1 GABRA1 GJC2 IQSEC2 COG2 LIG4 TUBGCP6 SURF1 LAGE3 DBH KCNH1 GABRG2 SHANK3 SLC35C1 STAG1 ATP1A3 NPHP1 PSAP EFTUD2 GRIA4 TBCE OCLN CACNA1A LARGE1 KRIT1 NIPBL ST3GAL3 PEX10 KCTD7 LIAS ARHGDIA BRAF DHCR7 BUB1B CNKSR2 NSDHL HIC1 ASXL3 AFG3L2 ERCC2 NOTCH1 DEAF1 ATAD3A PIGH MDH2 EHMT1 SMAD4 TMEM165 TAF1 SLC1A4 PLPBP GABRB3 CAMK2B C4A PEX12 TRAPPC11 CRB1 INPP5E SYNGAP1 WDR45 KIF5C NHLRC1 SLC2A1 SLC35A3 OFD1 CLCN4 ADSL LARS1 SLC1A3 MAGEL2 ALG13 GNAS EHMT1 CALM2 SYN1 NARS2 COQ8A MYO9A EEF1A2 AP4B1 EDC3 FLII TMEM237 SLC25A15 SPR ANO10 SLC13A5 CC2D2A MKRN3 NSMF MGAT2 CXCR4 CLN3 MED25 SLC12A3 POLG SLC46A1 CACNA1B DLG3 LHX4 SCN1B DDB2 CEP290 SYNJ1 TLR4 PAFAH1B1 PLP1 TRNV PIK3CA NPC2 BSCL2 NDUFAF5 COG4 ZSWIM6 SMAD4 STT3A AP3D1 MCTP2 TCF20 DPAGT1 CERS1 IL10 EIF2B5 SNX14 NALCN PRSS12 TSC2 PEX11B BRAT1 COA8 CLCN4 FBXO11 GEMIN4 CASP10 GCM2 SET DYNC1H1 EXTL3 ROBO1 DNAJC5 STAT4 MARCHF6 TWNK ARVCF FTSJ1 RORA COX3 AAAS HERC1 POLR3A PLAA ASPM CDKL5 PCLO ABCC8 MPDZ TBL1XR1 RNASEH2C GFAP TREX1 TBC1D24 GPHN NDUFA4 COG6 PRRT2 MBOAT7 CFHR1 EEF1A2 IQSEC2 PHACTR1 PUF60 DHDDS SLC25A12 TRNS2 RNF213 HDAC4 PNPLA8 SAMHD1 KLHL7 CFHR3 FGFR2 AP4M1 SLC12A5 STAG2 TUBB2B FLCN SLC9A6 PRUNE1 MIPEP TUBG1 GABRG2 PSEN1 EIF2S3 AIMP1 HNMT SLC25A15 PHF21A CRX PEX5 RAB3GAP1 ELOVL4 PRNP MAP2K1 SLC13A5 SCN9A EXTL3 GP1BB SATB2 SLC52A3 FGFR3 NAGS ROGDI IQSEC1 HCCS SMARCA4 C12ORF57 NOTCH2NLC MECP2 KCTD7 ERMARD HPRT1 MSX2 ACTL6B KAT6B GP1BA PANK2 TDP1 PNKP FAS HUWE1 TP53RK TBCD CDON MECP2 NHLRC1 EML1 ASS1 GAMT GABRB3 CD96 TRNL1 AMT CNNM2 KCNC3 MLC1 PEX12 MED12 TRNK

Protein Mutations 1

A147T

SNP 5

rs1024611 rs1360780 rs222797 rs2297201 rs2298771